Incidental Mutation 'IGL01063:Kcnq2'
ID 50383
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kcnq2
Ensembl Gene ENSMUSG00000016346
Gene Name potassium voltage-gated channel, subfamily Q, member 2
Synonyms Nmf134, KQT2
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01063
Quality Score
Status
Chromosome 2
Chromosomal Location 180717372-180777093 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 180751582 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000016491] [ENSMUST00000049792] [ENSMUST00000081528] [ENSMUST00000103047] [ENSMUST00000103048] [ENSMUST00000103050] [ENSMUST00000149964] [ENSMUST00000103051] [ENSMUST00000197015] [ENSMUST00000129695]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000016491
SMART Domains Protein: ENSMUSP00000016491
Gene: ENSMUSG00000016346

DomainStartEndE-ValueType
transmembrane domain 93 115 N/A INTRINSIC
Pfam:Ion_trans 128 312 7.3e-29 PFAM
Pfam:Ion_trans_2 237 317 2.5e-14 PFAM
Pfam:KCNQ_channel 436 595 2e-59 PFAM
Pfam:KCNQ_channel 593 673 1.7e-22 PFAM
low complexity region 711 723 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000049792
SMART Domains Protein: ENSMUSP00000052453
Gene: ENSMUSG00000016346

DomainStartEndE-ValueType
transmembrane domain 93 115 N/A INTRINSIC
Pfam:Ion_trans 128 312 7.2e-29 PFAM
Pfam:Ion_trans_2 237 317 2.5e-14 PFAM
Pfam:KCNQ_channel 436 565 3.1e-55 PFAM
Pfam:KCNQ_channel 587 668 6.8e-23 PFAM
low complexity region 706 718 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000081528
SMART Domains Protein: ENSMUSP00000080243
Gene: ENSMUSG00000016346

DomainStartEndE-ValueType
transmembrane domain 93 115 N/A INTRINSIC
Pfam:Ion_trans 128 312 4.3e-29 PFAM
Pfam:Ion_trans_2 237 317 1.7e-14 PFAM
Pfam:KCNQ_channel 436 564 2.3e-55 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000103047
SMART Domains Protein: ENSMUSP00000099336
Gene: ENSMUSG00000016346

DomainStartEndE-ValueType
transmembrane domain 93 115 N/A INTRINSIC
Pfam:Ion_trans 128 312 7.1e-29 PFAM
Pfam:Ion_trans_2 237 317 2.5e-14 PFAM
Pfam:KCNQ_channel 424 583 2e-59 PFAM
Pfam:KCNQ_channel 581 661 1.7e-22 PFAM
low complexity region 699 711 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000103048
SMART Domains Protein: ENSMUSP00000099337
Gene: ENSMUSG00000016346

DomainStartEndE-ValueType
transmembrane domain 93 115 N/A INTRINSIC
Pfam:Ion_trans 128 312 6.7e-29 PFAM
Pfam:Ion_trans_2 237 317 2.4e-14 PFAM
Pfam:KCNQ_channel 436 637 1.3e-82 PFAM
low complexity region 675 687 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000103049
SMART Domains Protein: ENSMUSP00000099338
Gene: ENSMUSG00000016346

DomainStartEndE-ValueType
Pfam:Ion_trans 35 268 3.7e-32 PFAM
Pfam:Ion_trans_2 181 261 1.1e-14 PFAM
Pfam:KCNQ_channel 392 584 1e-92 PFAM
Pfam:KCNQ2_u3 591 679 3.9e-39 PFAM
Pfam:KCNQC3-Ank-G_bd 692 791 1.1e-48 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000103050
SMART Domains Protein: ENSMUSP00000099339
Gene: ENSMUSG00000016346

DomainStartEndE-ValueType
transmembrane domain 93 115 N/A INTRINSIC
Pfam:Ion_trans 128 312 8.7e-29 PFAM
Pfam:Ion_trans_2 237 317 2.9e-14 PFAM
Pfam:KCNQ_channel 436 637 1.7e-82 PFAM
low complexity region 675 687 N/A INTRINSIC
Pfam:KCNQC3-Ank-G_bd 737 839 1.6e-51 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000149964
SMART Domains Protein: ENSMUSP00000122915
Gene: ENSMUSG00000016346

DomainStartEndE-ValueType
Pfam:Ion_trans 91 324 4.4e-32 PFAM
Pfam:Ion_trans_2 237 317 1.3e-14 PFAM
low complexity region 418 431 N/A INTRINSIC
Pfam:KCNQ_channel 466 659 6.2e-94 PFAM
Pfam:KCNQ2_u3 666 754 4.5e-39 PFAM
Pfam:KCNQC3-Ank-G_bd 767 866 1.2e-48 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129073
SMART Domains Protein: ENSMUSP00000127061
Gene: ENSMUSG00000016346

DomainStartEndE-ValueType
transmembrane domain 93 115 N/A INTRINSIC
Pfam:Ion_trans 128 312 1e-28 PFAM
Pfam:Ion_trans_2 237 317 3.4e-14 PFAM
Pfam:KCNQ_channel 436 565 3e-55 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154164
SMART Domains Protein: ENSMUSP00000131544
Gene: ENSMUSG00000016346

DomainStartEndE-ValueType
transmembrane domain 93 115 N/A INTRINSIC
Pfam:Ion_trans 128 312 1.4e-29 PFAM
Pfam:Ion_trans_2 237 317 7.8e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000103051
SMART Domains Protein: ENSMUSP00000099340
Gene: ENSMUSG00000016346

DomainStartEndE-ValueType
transmembrane domain 93 115 N/A INTRINSIC
Pfam:Ion_trans 128 312 8.9e-29 PFAM
Pfam:Ion_trans_2 237 317 2.9e-14 PFAM
Pfam:KCNQ_channel 446 647 1.7e-82 PFAM
low complexity region 685 697 N/A INTRINSIC
Pfam:KCNQC3-Ank-G_bd 747 849 1.7e-51 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144592
SMART Domains Protein: ENSMUSP00000133237
Gene: ENSMUSG00000016346

DomainStartEndE-ValueType
transmembrane domain 93 115 N/A INTRINSIC
Pfam:Ion_trans 128 312 5.6e-29 PFAM
Pfam:Ion_trans_2 237 317 2.2e-14 PFAM
low complexity region 398 415 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129361
SMART Domains Protein: ENSMUSP00000131756
Gene: ENSMUSG00000016346

DomainStartEndE-ValueType
transmembrane domain 93 115 N/A INTRINSIC
Pfam:Ion_trans 128 310 7.6e-29 PFAM
Pfam:Ion_trans_2 237 311 2.9e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000197015
SMART Domains Protein: ENSMUSP00000143263
Gene: ENSMUSG00000016346

DomainStartEndE-ValueType
transmembrane domain 93 115 N/A INTRINSIC
Pfam:Ion_trans 128 312 8.7e-29 PFAM
Pfam:Ion_trans_2 237 317 2.9e-14 PFAM
Pfam:KCNQ_channel 436 637 1.7e-82 PFAM
low complexity region 675 687 N/A INTRINSIC
Pfam:KCNQC3-Ank-G_bd 737 839 1.6e-51 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000129695
SMART Domains Protein: ENSMUSP00000123488
Gene: ENSMUSG00000016346

DomainStartEndE-ValueType
Pfam:Ion_trans 14 198 6.8e-29 PFAM
Pfam:Ion_trans_2 123 203 2.4e-14 PFAM
Pfam:KCNQ_channel 320 521 1.3e-82 PFAM
low complexity region 559 571 N/A INTRINSIC
Pfam:KCNQC3-Ank-G_bd 621 723 1.3e-51 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139458
SMART Domains Protein: ENSMUSP00000130633
Gene: ENSMUSG00000016346

DomainStartEndE-ValueType
Pfam:Ion_trans 91 324 2.6e-32 PFAM
Pfam:Ion_trans_2 237 317 9.7e-15 PFAM
low complexity region 408 425 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123336
SMART Domains Protein: ENSMUSP00000130700
Gene: ENSMUSG00000016346

DomainStartEndE-ValueType
transmembrane domain 93 115 N/A INTRINSIC
Pfam:Ion_trans 128 312 2.2e-30 PFAM
Pfam:Ion_trans_2 237 317 1.6e-15 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140789
Predicted Effect probably benign
Transcript: ENSMUST00000197599
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The M channel is a slowly activating and deactivating potassium channel that plays a critical role in the regulation of neuronal excitability. The M channel is formed by the association of the protein encoded by this gene and a related protein encoded by the KCNQ3 gene, both integral membrane proteins. M channel currents are inhibited by M1 muscarinic acetylcholine receptors and activated by retigabine, a novel anti-convulsant drug. Defects in this gene are a cause of benign familial neonatal convulsions type 1 (BFNC), also known as epilepsy, benign neonatal type 1 (EBN1). At least five transcript variants encoding five different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation die perinatally with pulmonary atelectasis. Heterozygous mice exhibit a hypersensitivity to the epileptic inducer pentylenetetrazole. Mice homozygous for a knock-in allele exhibit spontaneous seizures and premature death. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,834,475 (GRCm39) V124I probably damaging Het
4930444P10Rik A T 1: 16,148,870 (GRCm39) L61* probably null Het
Abca7 T C 10: 79,847,131 (GRCm39) I1705T probably damaging Het
Ablim1 T A 19: 57,049,760 (GRCm39) I393F probably damaging Het
Adamts5 A G 16: 85,696,722 (GRCm39) L145P probably damaging Het
Ano6 T C 15: 95,846,310 (GRCm39) I537T probably damaging Het
AU018091 T C 7: 3,212,153 (GRCm39) I190V possibly damaging Het
Camk1 T A 6: 113,315,333 (GRCm39) D155V probably damaging Het
Cdh6 A C 15: 13,064,581 (GRCm39) I103S probably damaging Het
Cntnap1 A G 11: 101,072,614 (GRCm39) D537G probably benign Het
Col6a3 T C 1: 90,730,054 (GRCm39) K1144E probably damaging Het
Cpeb1 T A 7: 81,021,929 (GRCm39) E71D probably benign Het
Cps1 T C 1: 67,234,325 (GRCm39) L904P possibly damaging Het
Cyfip1 T A 7: 55,553,958 (GRCm39) F700I probably damaging Het
Dmp1 G A 5: 104,354,965 (GRCm39) M1I probably null Het
Efcab6 A T 15: 83,938,713 (GRCm39) M1K probably null Het
Extl2 A T 3: 115,821,131 (GRCm39) H312L possibly damaging Het
Fat4 C A 3: 38,944,728 (GRCm39) A1207D possibly damaging Het
Flnb T C 14: 7,926,518 (GRCm38) probably benign Het
Hdac10 G T 15: 89,008,071 (GRCm39) A593E possibly damaging Het
Hdhd2 T C 18: 77,052,969 (GRCm39) probably null Het
Kdm7a A G 6: 39,142,064 (GRCm39) F405L probably damaging Het
Lypd6b C A 2: 49,833,642 (GRCm39) probably benign Het
Mki67 A T 7: 135,296,651 (GRCm39) D2794E possibly damaging Het
Mtmr14 T A 6: 113,243,287 (GRCm39) F40I probably damaging Het
Or2y3 G T 17: 38,393,544 (GRCm39) S108R possibly damaging Het
Or5p55 A T 7: 107,566,741 (GRCm39) I46F probably damaging Het
Or6d13 T A 6: 116,517,968 (GRCm39) C185S probably damaging Het
Or6x1 A T 9: 40,099,052 (GRCm39) I214F probably benign Het
Ppargc1a C A 5: 51,631,664 (GRCm39) V322L probably benign Het
Ppfibp1 T A 6: 146,931,195 (GRCm39) M917K probably benign Het
Prkg2 C T 5: 99,117,795 (GRCm39) probably null Het
Rfx4 A G 10: 84,704,246 (GRCm39) E296G possibly damaging Het
Rfx8 T A 1: 39,722,110 (GRCm39) K292* probably null Het
Scamp3 C A 3: 89,084,973 (GRCm39) probably benign Het
Scn4a A T 11: 106,221,190 (GRCm39) I823N possibly damaging Het
Sdk2 A G 11: 113,721,668 (GRCm39) V1316A probably damaging Het
Setd2 T C 9: 110,402,741 (GRCm39) V1794A probably damaging Het
Stard8 G T X: 98,116,694 (GRCm39) R983L probably damaging Het
Tbc1d23 A T 16: 57,013,038 (GRCm39) D311E probably benign Het
Tex21 T C 12: 76,245,592 (GRCm39) H568R probably benign Het
Tex35 T C 1: 156,932,667 (GRCm39) probably benign Het
Tgs1 T A 4: 3,591,292 (GRCm39) F442I possibly damaging Het
Traf2 C A 2: 25,414,931 (GRCm39) C303F probably benign Het
Trim56 A T 5: 137,143,354 (GRCm39) V54D possibly damaging Het
Yars2 C T 16: 16,124,406 (GRCm39) R338* probably null Het
Zfp668 A T 7: 127,465,454 (GRCm39) C577S probably damaging Het
Other mutations in Kcnq2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02064:Kcnq2 APN 2 180,750,819 (GRCm39) missense probably damaging 1.00
IGL02231:Kcnq2 APN 2 180,723,508 (GRCm39) missense probably benign 0.22
IGL02261:Kcnq2 APN 2 180,723,483 (GRCm39) missense probably damaging 0.98
IGL02510:Kcnq2 APN 2 180,723,154 (GRCm39) missense probably benign
IGL02583:Kcnq2 APN 2 180,723,295 (GRCm39) missense probably benign 0.01
IGL02627:Kcnq2 APN 2 180,724,120 (GRCm39) unclassified probably benign
IGL03303:Kcnq2 APN 2 180,724,182 (GRCm39) missense probably benign
R0269:Kcnq2 UTSW 2 180,738,767 (GRCm39) missense probably benign 0.00
R1535:Kcnq2 UTSW 2 180,776,618 (GRCm39) missense probably damaging 1.00
R1688:Kcnq2 UTSW 2 180,728,826 (GRCm39) missense probably damaging 1.00
R1776:Kcnq2 UTSW 2 180,742,350 (GRCm39) missense probably benign 0.01
R1946:Kcnq2 UTSW 2 180,730,244 (GRCm39) missense probably benign 0.09
R2105:Kcnq2 UTSW 2 180,723,145 (GRCm39) missense probably benign 0.03
R2382:Kcnq2 UTSW 2 180,753,900 (GRCm39) missense probably damaging 1.00
R2912:Kcnq2 UTSW 2 180,723,567 (GRCm39) missense probably damaging 1.00
R3826:Kcnq2 UTSW 2 180,746,693 (GRCm39) missense possibly damaging 0.56
R3898:Kcnq2 UTSW 2 180,751,479 (GRCm39) missense probably damaging 0.97
R4282:Kcnq2 UTSW 2 180,722,946 (GRCm39) missense probably damaging 1.00
R4938:Kcnq2 UTSW 2 180,728,766 (GRCm39) missense probably damaging 0.96
R4962:Kcnq2 UTSW 2 180,753,836 (GRCm39) missense possibly damaging 0.59
R5055:Kcnq2 UTSW 2 180,728,554 (GRCm39) intron probably benign
R5107:Kcnq2 UTSW 2 180,750,340 (GRCm39) intron probably benign
R5371:Kcnq2 UTSW 2 180,776,813 (GRCm39) missense probably damaging 1.00
R5557:Kcnq2 UTSW 2 180,776,690 (GRCm39) missense probably benign 0.07
R5839:Kcnq2 UTSW 2 180,751,544 (GRCm39) missense probably damaging 1.00
R5998:Kcnq2 UTSW 2 180,728,801 (GRCm39) missense probably damaging 1.00
R6084:Kcnq2 UTSW 2 180,729,449 (GRCm39) missense possibly damaging 0.53
R6207:Kcnq2 UTSW 2 180,755,026 (GRCm39) missense possibly damaging 0.49
R6744:Kcnq2 UTSW 2 180,727,099 (GRCm39) missense possibly damaging 0.94
R7018:Kcnq2 UTSW 2 180,723,517 (GRCm39) nonsense probably null
R7266:Kcnq2 UTSW 2 180,776,885 (GRCm39) start codon destroyed probably null 0.92
R7291:Kcnq2 UTSW 2 180,730,172 (GRCm39) missense possibly damaging 0.69
R7319:Kcnq2 UTSW 2 180,750,895 (GRCm39) missense probably damaging 1.00
R7447:Kcnq2 UTSW 2 180,754,887 (GRCm39) missense probably damaging 0.97
R7573:Kcnq2 UTSW 2 180,723,382 (GRCm39) missense probably benign 0.04
R7897:Kcnq2 UTSW 2 180,722,934 (GRCm39) missense probably damaging 1.00
R8942:Kcnq2 UTSW 2 180,724,244 (GRCm39) missense probably damaging 1.00
R9381:Kcnq2 UTSW 2 180,751,562 (GRCm39) missense probably damaging 0.97
R9394:Kcnq2 UTSW 2 180,724,217 (GRCm39) missense probably benign
R9516:Kcnq2 UTSW 2 180,776,753 (GRCm39) missense probably benign 0.00
R9544:Kcnq2 UTSW 2 180,729,407 (GRCm39) missense probably damaging 1.00
R9592:Kcnq2 UTSW 2 180,728,813 (GRCm39) missense probably damaging 1.00
Posted On 2013-06-21